2025 CPT code 81411
(Active) Effective Date: N/A Revision Date: N/A Pathology and Laboratory - Genomic Sequencing Procedures and Other Molecular Multianalyte Assays Pathology and Laboratory Procedures Feed
Duplication/deletion analysis panel for genes related to aortic dysfunction or dilation (e.g., Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome type IV, arterial tortuosity syndrome); must include TGFBR1, TGFBR2, MYH11, and COL3A1.
Modifiers may be applicable depending on the circumstances of service. For instance, modifier 59 may be used to indicate a distinct procedural service, while modifiers related to place of service or technical components may also be necessary.
Medical necessity for this test is established when there's clinical suspicion of a connective tissue disorder affecting the aorta based on symptoms, family history, and imaging findings.The test aids in establishing a precise diagnosis and directing management strategies for aortic disease.
The clinical responsibility lies with the ordering physician who interprets the results in the context of the patient's clinical presentation. The laboratory analyst performs the technical aspects of the test, which involves extracting DNA from a patient sample and conducting the duplication/deletion analysis.
- Pathology and Laboratory Procedures
- Genomic Sequencing Procedures and Other Molecular Multianalyte Assays
In simple words: This lab test checks for extra or missing pieces of genes that can cause problems with the aorta (the main artery in the body).It looks for specific genes linked to conditions such as Marfan syndrome or Ehlers-Danlos syndrome, which can weaken the aorta and increase the risk of serious issues. The test helps doctors understand the cause of aortic problems.
This CPT code represents a comprehensive panel for duplication/deletion analysis focusing on genes associated with aortic dysfunction or dilation.The panel must include analysis of at least four genes, namely TGFBR1, TGFBR2, MYH11, and COL3A1,but may include additional genes relevant to conditions like Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome type IV, and arterial tortuosity syndrome.The analysis aims to detect increases or decreases in the normal copy number of these genes, which can be indicative of these disorders. Methods such as Multiplex Ligation-dependent Probe Amplification (MLPA) might be utilized to identify large deletions or duplications that standard DNA sequencing may miss. This test often serves as a follow-up for patients with initially negative gene sequencing results, helping clarify the etiology of aortic abnormalities.
Example 1: A patient presents with symptoms suggestive of Marfan syndrome, including tall stature, long fingers, and an enlarged aorta. Initial genetic testing for FBN1 (a gene commonly associated with Marfan syndrome) was negative.Code 81411 is ordered to investigate potential duplications or deletions in other genes related to aortic conditions., A patient with a family history of Loeys-Dietz syndrome and evidence of aortic aneurysm undergoes this panel to confirm the diagnosis and assess the extent of genetic abnormalities associated with the condition., Following a diagnosis of Ehlers-Danlos syndrome type IV, code 81411 is used to evaluate for gene duplications or deletions that may contribute to the severity of aortic involvement in this patient.
* Patient's medical history, including family history of connective tissue disorders and cardiovascular issues.* Physical examination findings, including measurements of height, arm span, and aortic dimensions.* Imaging studies, such as echocardiograms, CT scans, or MRIs of the heart and great vessels.* Detailed laboratory report from 81411 including specific genes analyzed and results (copy number variants).
** This test is particularly useful in cases where standard genetic sequencing is negative but clinical suspicion for an aortic disorder remains.Clinicians should consider the clinical picture and risk factors to ensure appropriate patient selection for this test.
- Revenue Code: Z2 (Undefined Codes)
- Payment Status: Active
- Modifier TC rule: The technical component (TC) modifier may apply to this test, depending on the laboratory's billing practices and the payer's policies. Consult the laboratory's fee schedule and payer guidelines for details.
- Fee Schedule: Information on historical fee schedules is not available in the provided dataset. Consult payer-specific fee schedules or other fee-for-service databases for historical pricing information.
- Specialties:Cardiology, Genetics, Medical Genetics, Vascular Surgery
- Place of Service:Office, Hospital (Inpatient/Outpatient), Laboratory